title: The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations.
authors.affiliation: Laboratoire de Biochimie Génétique Centre National de la Recherche Scientifique, URA 1335, Hôpital Necker Enfants-Malades, Paris, France.
authors.forename: G
authors.initials: G
authors.lastname: Liu
authors.forename: B
authors.initials: B
authors.lastname: Aral
authors.forename: M T
authors.initials: MT
authors.lastname: Zabot
authors.forename: P
authors.initials: P
authors.lastname: Kamoun
authors.forename: I
authors.initials: I
authors.lastname: Ceballos-Picot
mesh_terms: D001483:Base Sequence; D002478:Cells, Cultured; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D005192:Family Health; D016368:Frameshift Mutation; D005602:France; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology / Q000235:genetics*; D009154:Mutation; D020125:Mutation, Missense; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017384:Sequence Deletion
chemical_list: D018076:DNA, Complementary; D007041:Hypoxanthine Phosphoribosyltransferase